A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506461



Internal ID22564408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51938249..51943963hg38UCSC Ensembl
chr6:51803047..51808761hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385715
hg195715
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845541
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506461
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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